Atypical neurological manifestations in anti-IgLON5 disease: a case report
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SUBMITTER: Chen Y
PROVIDER: S-EPMC10915776 | biostudies-literature | 2024 Jan
REPOSITORIES: biostudies-literature
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Project description:Anti-IgLON family member 5 (IgLON5) disease is a rare autoimmune encephalitis, characterized by sleep problems, cognitive decline, gait abnormalities, and bulbar dysfunction. Anti-leucine-rich glioma-inactivated 1 (LGI1) autoimmune encephalitis is characterized by cognitive dysfunction, mental disorders, faciobrachial dystonic seizures (FBDS), and hyponatremia. Various studies report that coronavirus disease 2019 (COVID-19) have an effect on the nervous system and induce a wide range of neurological symptoms. Autoimmune encephalitis is one of the neurological complications in severe acute respiratory syndrome coronavirus 2 infection. Until now, autoimmune encephalitis with both anti-IgLON5 and anti-LGI1 receptor antibodies following COVID-19 is rarely reported. The case report described a 40-year-old man who presented with sleep behavior disorder, daytime sleepiness, paramnesia, cognitive decline, FBDS, and anxiety following COVID-19. Anti-IgLON5 and anti-LGI1 receptor antibodies were positive in serum, and anti-LGI1 receptor antibodies were positive in cerebrospinal fluid. The patient presented with typical symptoms of anti-IgLON5 disease such as sleep behavior disorder, obstructive sleep apnea, and daytime sleepiness. Moreover, he presented with FBDS, which is common in anti-LGI1 encephalitis. Therefore, the patient was diagnosed with anti-IgLON5 disease and anti-LGI1 autoimmune encephalitis. The patient turned better after high-dose steroid and mycophenolate mofetil therapy. The case serves to increase the awareness of rare autoimmune encephalitis after COVID-19.
| S-EPMC10293611 | biostudies-literature
Project description:The rehabilitative management of neurological diseases such as Parkinson's disease (PD) and multiple sclerosis (MS) is complex; drug treatment alone is generally insufficient. Multidisciplinary rehabilitation programs can fundamentally contribute to the management of neurological patients and have important positive repercussions on their quality of life. We describe the unusual case of a 70-year-old man with a diagnosis of both MS and PD, who presented with motor and cognitive impairments. He was admitted to our institute for a rehabilitation program. Motor, cognitive, and linguistic abilities were evaluated at admission and 60 days after the multidisciplinary rehabilitation, which included motor exercises, speech therapy, and cognitive interventions. The multidisciplinary rehabilitation improved the patient's functional status and exerted positive effects on his mood, autonomy in activities of daily life, perception of quality of life, cognitive performance, and speech skills. It is important to find new methods for treating neurological patients to better manage the social and economic implications of neurological disease, and to ensure a long course of treatment and rehabilitation.
| S-EPMC9247376 | biostudies-literature
Project description:Immunotherapy may be ineffective in the advanced stages of anti-IgLON5 disease with psychiatric symptoms. The psychiatric symptoms in advanced stages of anti-IgLON5 disease may be associated with neurodegeneration.
| S-EPMC10784753 | biostudies-literature
Project description:BackgroundAnti-IgLON5 disease is a relatively rare autoimmune disease of the nervous system. The clinical course of this disease is generally chronic and progressive, exhibiting heterogeneity in clinical presentation and the lack of specific imaging features. We now report a case of a Anti-IgLON5 antibody-positive patient demonstrated two distinctive features. Firstly, the onset was marked by acute encephalopathy symptoms, including fever, with consciousness disturbance as the initial manifestation. Secondly, imaging studies revealed multiple lesions within the meninges and intracranial regions, characterized by extensive thickening and enhancement of the dura mater.Case presentationA previously healthy 78-year-old male patient presented with impaired consciousness and was admitted to the hospital. Brain MRI demonstrated abnormal signal located in the bilateral basal ganglia, frontal and parietal lobes. Post-contrast enhancement demonstrated thickening and enhancement of the dura mater in the bilateral frontal regions, along with mild enhancementin the cortical areas of the bilateral temporal lobes. Cerebrospinal fluid (CSF) analysis indicated the presence of oligoclonal bands in both serum and CSF, with a higher count in the CSF compared to serum. IgG antibodies against IgLON5 were detected in serum and CSF at a titer of 1:100. CSF concentrations of total Tau protein (t-Tau) and phosphorylated Tau protein (p-Tau) were normal. In conjunction with a positive serum and CSF IgLON5 antibody and exclusion of other diseases, diagnosis of anti-IgLON5 disease was made. Symptoms resolved completely after intravenous methylprednisolone and immunoglobulin therapy were administered. At 3-week follow-up the small patchy abnormal signal in the bilateral basal ganglia, frontal and parietal lobes have resolved. Additionally, post-contrast imaging reveals the absence of the previously noted abnormal dural enhancement. and there was no recurrence 18 months after the onset of the disease.ConclusionsAnti-IgLON5 disease is a heterogeneous disorder characterized by a wide spectrum of clinical manifestations. IgLON5 encephalopathy characterized mainly by symptoms of acute neurological symptoms and MRI evidence of meningeal enhancement has not been reported previously. The appropriate diagnostic strategy should encompass a thorough clinical evaluation, testing for anti-IgLON5 antibodies in both CSF and serum, as well as HLA genotyping. Timely diagnosis and early Intravenous methylprednisolone and/or IVIG therapy are beneficial in improving prognosis and preventing recurrence.
| S-EPMC11881245 | biostudies-literature
Project description:RationaleAnti-IgLON5 disease is a complex neurological illness which is characterized by progressive sleep and movement disorders and defined by specific autoantibodies to IgLON5. We here describe the first case of a patient with coexisting anti-IgLON5 as well as anti-γ-aminobutyric acid B (GABAB)-receptor antibodies and predominant clinical features of anti-IgLON5 disease.Patient concernsThe patient initially presented with subacute symptoms of severe sleep disorder, gait stability, dysarthria, cognitive impairment, depressive episode and hallucinations.DiagnosesThe patient was diagnosed with autoimmune encephalitis, based on clinical features and positive anti-IgLON5 antibodies in serum as well as in cerebrospinal fluid and anti-GABAB-receptor antibodies in serum only.InterventionsInitially, the patient was treated with high dosages of methylprednisolone and subsequently with plasmapheresis. Due to the lack of clinical improvement immunosuppressive treatment with intravenous cyclophosphamide was initiated.OutcomesFollowing the first year of cyclophosphamide treatment, neurological examination revealed an improvement in gait instability, visual and acoustic hallucinations and sleep disorder.LessonsThe case report demonstrates that anti-IgLON5 and anti-GABAB-receptor antibodies can coexist in the same patient whereas clinical leading symptoms are determined by those antibodies that were tested positive in cerebrospinal fluid.
| S-EPMC6531245 | biostudies-literature
Project description:BackgroundAnti-glomerular basement membrane (anti-GBM) disease is characterized by crescentic necrotizing glomerulonephritis, with linear deposits of immunoglobulin G (IgG) in the GBM. Classic anti-GBM disease is clinically associated with rapidly progressive glomerulonephritis with or without pulmonary hemorrhage. Some patients have a better renal prognosis and milder symptoms than those with classic anti-GBM disease, which is termed atypical anti-GBM disease.Case presentationA 43-year-old Japanese woman was admitted to our hospital complaining of hematuria that had persisted for more than one month. Serological examination revealed negativity for anti-nuclear, anti-neutrophilic cytoplasmic, and anti-GBM antibodies. However, renal biopsy showed cellular crescents. Immunofluorescence revealed strong diffuse linear capillary loop staining for IgG. An indirect immunofluorescence antibody method was performed by applying the patient serum to normal kidney tissue to confirm the presence of autoantibodies binding to the GBM. Using this method, anti-GBM antibodies were detected. The patient was treated with high-dose steroids, cyclophosphamide, and plasma exchange. Aggressive treatment resolved proteinuria and hematuria and improved renal function.ConclusionsRenal biopsy is crucial in the diagnosis of anti-GBM disease, especially when serological tests are negative. Accurately identifying the presence of anti-GBM disease is important to initiate optimal treatment.
| S-EPMC9675149 | biostudies-literature
Project description:ObjectiveAnti-IgLON5 disease is a rare autoimmune mediated disease. It is mainly featured by sleep-related disturbance, parkinsonism, chorea and limb ataxia. Previous studies had clarified its clinical manifestations and predisposing genes. However, as far as we know, anti-IgLON5 disease combined with paraneoplastic cerebellar degeneration (PCD) with the detection of anti-Sulfatide IgG antibody, masquerading as meningoencephalitis had not been reported before.Case presentationA 57-year-old Chinese female presented with walking unsteadily for 12 days and logagnosia for 2 days and was admitted to our hospital. She had a past history of breast cancer. Magnetic resonance imaging (MRI) revealed leptomeningeal enhancement (prominent in cerebellar hemisphere). Arterial spin labeling (ASL) perfusion showed hyperperfusion in the cerebellar hemisphere and interhemispheric fissure cistern. MRI and ASL indicated the diagnosis was meningoencephalitis. However, IgG anti-IgLON5 antibody was positive in both serum and cerebrospinal fluid. Therefore, the diagnosis was anti-IgLON5 disease. In addition, the patient combined with PCD due to positive anti-Yo-antibody in serum fluid .ConclusionsWhereas sleep disturbance is the most common feature in patients with anti-IgLON5 disease, our case presented with walking unsteadily and logagnosia. Anti-IgLON5 disease combined with PCD with the detection of anti-Sulfatide IgG antibody, masquerading as meningoencephalitis is very rare. Therefore, if meningoencephalitis did not recover with conventional treatment, anti-IgLON5 disease and PCD should be considered as the differential diagnosis.
| S-EPMC11622487 | biostudies-literature
Project description:BackgroundAnti-IgLON5 disease is an autoimmune encephalitis overlapping with neurodegenerative disorders due to pathological accumulation of hyperphosphorylated tau. It is characterized by several clinical manifestations determined by involvement of different brain areas, and mild response to first-line immunotherapies. We report a case of anti-IgLON5 disease with a multifaceted semiology and an unusually good response to glucocorticoid monotherapy.Case presentationA 68-year-old man with type 2 diabetes was evaluated for an 8-month history of progressive gait disorder causing frequent falls. He also suffered from obstructive sleep apneas and complained of dysphonia, dysarthria, occasional dysphagia, urinary incontinence, and upper limb action tremor. Neurological examination demonstrated bilateral eyelid ptosis, limitation of ocular horizontal smooth pursuit movements, slow horizontal saccades, and lack of inhibition of the vestibulo-ocular reflex during rapid horizontal head torsions. The patient also displayed involuntary, slow, rhythmic movements of the left periorbital and perioral muscles, spreading to the ipsilateral hemipalate and hemitongue, along with bilateral negative upper limb myoclonus. There were proximal muscle wasting in the upper limbs, proximal weakness of the four limbs, and diffuse fasciculations. Ataxia of stance and gait and of the four limbs was noted. MRI of the brain and spine was unremarkable; nerve conduction studies revealed a chronic, predominantly demyelinating, sensory-motor polyneuropathy, probably due to diabetes. Routine CSF examination was unrevealing and serum GFAP level was 89.6 pg/mL; however, the autoimmunity tests revealed a high-titer positivity for anti-IgLON5 autoantibodies in both CSF and serum, leading to the diagnosis of anti-IgLON5 disease. Symptoms improved significantly after intravenous methylprednisolone.ConclusionsHemifacial and hemiorolingual myorhythmia along with peculiar oculomotor abnormalities characterizes the multifaceted clinical picture of our case. The complex semiology of our patient may reflect multifocal targeting of the autoimmune process or sequential spreading of tau inclusions in different brain areas. Our patient's optimal response to glucocorticoid monotherapy could be underpinned by a slightly different phenotype in which autoimmunity plays a greater pathogenic role than tauopathy, with a lower burden of tau deposition. In such patients, neurodegeneration and tau accumulation could be merely secondary to immune-mediated neuronal dysfunction, supporting the existence of a group of glucocorticoid-responsive patients.
| S-EPMC11386077 | biostudies-literature
Project description:ObjectiveAnti-IgLON5 disease forms an interface between neuroinflammation and neurodegeneration and includes clinical phenotypes that are often similar to those of neurodegenerative diseases. An early diagnosis of patients with anti-IgLON5 disease and differentiation from neurodegenerative diseases is necessary and may have therapeutic implications.MethodsIn our small sample size study we investigated oculomotor function as a differentiating factor between anti-IgLON5 disease and neurodegenerative disorders. We examined ocular motor and vestibular function in four patients suffering from anti-IgLON5 disease using video-oculography (VOG) and a computer-controlled rotational chair system (sampling rate 60 Hz) and compared the data with those from ten age-matched patients suffering from progressive supranuclear palsy (PSP) and healthy controls (CON).ResultsPatients suffering from anti-IgLON5 disease differed from PSP most strikingly in terms of saccade velocity and accuracy, the presence of square wave jerks (SWJ) (anti-IgLON5 0/4 vs. PSP 9/10) and the clinical finding of supranuclear gaze palsy (anti-IgLON5 1/4). The presence of nystagmus, analysis of smooth pursuit eye movements, VOR and VOR suppression was reliable to differentiate between the two disease entities. Clear differences in all parameters, although not always significant, were found between all patients and CON.DiscussionWe conclude that the use of VOG as a tool for clinical neurophysiological assessment can be helpful in differentiating between patients with PSP and patients with anti-IgLON5 disease. VOG could have particular value in patients with suspected PSP and lack of typical Parkinson's characteristics. future trials are indispensable to assess the potential of oculomotor function as a biomarker in anti-IgLON5 disease.
| S-EPMC8514941 | biostudies-literature
Project description: Not available
| S-EPMC7396831 | biostudies-literature